Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs755825264
rs755825264
XPC
1 1.000 0.160 3 14168330 stop gained G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 2 2006 2013
dbSNP: rs1192077068
rs1192077068
GSTM1 ; GSTM2
1 1.000 0.160 1 109687896 stop gained G/A snv 1.5E-05 0.010 1.000 1 2005 2005
dbSNP: rs776705174
rs776705174
ERCC2
1 1.000 0.160 19 45357267 splice donor variant -/A delins 4.0E-06; 1.6E-05 2.1E-05 0.700 1.000 1 1994 1994
dbSNP: rs776865296
rs776865296
XPC
1 1.000 0.160 3 14158463 stop gained G/A snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1283214655
rs1283214655
ERCC5 ; BIVM-ERCC5
1 1.000 0.160 13 102862320 frameshift variant -/T delins 0.700 0
dbSNP: rs1200172747
rs1200172747
XPA
2 0.925 0.160 9 97689570 frameshift variant TAAGA/- delins 4.0E-06 2.1E-05 0.700 1.000 3 1998 2016
dbSNP: rs374117852
rs374117852
XPC
2 0.925 0.160 3 14152376 stop gained T/A snv 3.5E-05 0.700 1.000 3 2006 2013
dbSNP: rs752088918
rs752088918
XPC
2 0.925 0.160 3 14167223 frameshift variant AT/- delins 2.4E-05 2.1E-05 0.700 1.000 3 2000 2007
dbSNP: rs104894132
rs104894132
XPA
2 0.925 0.160 9 97675579 stop gained G/A snv 3.0E-04 3.2E-04 0.700 1.000 2 2010 2017
dbSNP: rs149226993
rs149226993
XPA
2 0.925 0.160 9 97684965 stop gained G/A snv 4.0E-06 0.700 1.000 2 1992 2017
dbSNP: rs754532049
rs754532049
XPC
2 0.925 0.160 3 14158239 frameshift variant CA/- delins 2.0E-05 3.5E-05 0.700 1.000 2 2006 2016
dbSNP: rs754673606
rs754673606
XPC ; LOC107986063
2 0.925 0.160 3 14148732 splice acceptor variant C/G;T snv 2.4E-05 0.700 1.000 2 2011 2016
dbSNP: rs121434570
rs121434570
ERCC5 ; BIVM-ERCC5
2 0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06 0.700 1.000 1 1994 1994
dbSNP: rs1232856265
rs1232856265
ERCC3
2 0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs1554701103
rs1554701103
XPA
2 0.925 0.160 9 97684929 frameshift variant -/T delins 0.700 1.000 1 1998 1998
dbSNP: rs552453137
rs552453137
XPC
2 0.925 0.160 3 14165512 missense variant A/G snv 2.0E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs757958943
rs757958943
XPC
2 0.925 0.160 3 14158640 stop gained G/A snv 1.2E-05 4.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs929424117
rs929424117
ERCC5 ; BIVM-ERCC5
2 0.925 0.160 13 102866645 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913050
rs121913050
ERCC4
3 0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1554788393
rs1554788393
ERCC6
3 0.882 0.240 10 49482818 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs77907221
rs77907221
XPC
3 0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs121913049
rs121913049
ERCC4
4 0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 0.020 1.000 2 2010 2019
dbSNP: rs121913023
rs121913023
ERCC2
4 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs121913024
rs121913024
ERCC2
4 0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05 0.010 1.000 1 2001 2001
dbSNP: rs770998368
rs770998368
ERCC5 ; BIVM-ERCC5
5 0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2007 2007